Mutagenetix > Incidental Mutation

Incidental Mutation 'N/A - 535:Klhl29'

211

Institutional Source

Beutler Lab

Gene Symbol

Klhl29

Ensembl Gene

ENSMUSG00000020627

Gene Name

kelch-like 29

Synonyms

Kbtbd9, A230106N14Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.140) question?

Stock #

N/A - 535 of strain bumble

Quality Score

Status

Validated

Chromosome

Chromosomal Location

5127472-5425682 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 5134019 bp (GRCm39)

Zygosity

Homozygous

Amino Acid Change

Alanine to Threonine at position 773 (A773T)

Ref Sequence

ENSEMBL: ENSMUSP00000020958 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020958] [ENSMUST00000218384]

AlphaFold

Q80T74

Predicted Effect

probably damaging
Transcript: ENSMUST00000020958
AA Change: A773T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000020958
Gene: ENSMUSG00000020627
AA Change: A773T

Domain	Start	End	E-Value	Type
low complexity region	30	49	N/A	INTRINSIC
low complexity region	50	75	N/A	INTRINSIC
low complexity region	80	94	N/A	INTRINSIC
low complexity region	205	219	N/A	INTRINSIC
low complexity region	260	280	N/A	INTRINSIC
BTB	329	431	2.07e-22	SMART
BACK	436	538	4.88e-32	SMART
Kelch	585	636	5.33e0	SMART
Kelch	637	683	5.42e-5	SMART
Kelch	684	730	5.42e-5	SMART
Kelch	731	778	5.44e-1	SMART
Kelch	779	821	2.54e-1	SMART
Kelch	822	870	4.01e-8	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000218384
AA Change: A712T

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)

Meta Mutation Damage Score

0.2896

Coding Region Coverage

1x: 83.1%
3x: 57.4%

Validation Efficiency

88% (80/91)

Allele List at MGI

All alleles(5) : Targeted, other(2) Gene trapped(3)

Other mutations in this stock

Total: 11 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cacna1e	A	T	1: 154,341,510 (GRCm39)	L1166Q	probably damaging	Het
Cd44	T	C	2: 102,644,534 (GRCm39)	M481V	possibly damaging	Het
Eif4g3	T	A	4: 137,847,739 (GRCm39)	V220D	probably damaging	Het
Gm12778	T	A	7: 33,875,347 (GRCm39)		noncoding transcript	Homo
Lifr	A	T	15: 7,216,434 (GRCm39)	H803L	possibly damaging	Het
Macf1	T	C	4: 123,367,601 (GRCm39)	T822A	possibly damaging	Het
Obscn	A	T	11: 58,891,134 (GRCm39)	C1653S	possibly damaging	Het
Ogdh	T	C	11: 6,274,911 (GRCm39)	L180P	possibly damaging	Het
Rnf5	T	C	17: 34,822,330 (GRCm39)	S40G	possibly damaging	Het
Sbf2	T	C	7: 109,911,959 (GRCm39)	T1696A	probably benign	Het
Ska2	C	T	11: 87,008,680 (GRCm39)		probably benign	Het

Other mutations in Klhl29

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Klhl29	APN	12	5,190,705 (GRCm39)	missense	probably benign	0.01
IGL02639:Klhl29	APN	12	5,187,453 (GRCm39)	missense	probably damaging	0.96
IGL03142:Klhl29	APN	12	5,187,603 (GRCm39)	missense	probably damaging	1.00
bauxite	UTSW	12	5,141,347 (GRCm39)	missense	probably damaging	0.98
Kerosene	UTSW	12	5,141,030 (GRCm39)	missense	probably damaging	0.98
Mineral	UTSW	12	5,133,995 (GRCm39)	missense	probably damaging	0.99
tungsten	UTSW	12	5,140,995 (GRCm39)	nonsense	probably null
R0347:Klhl29	UTSW	12	5,134,354 (GRCm39)	missense	probably damaging	0.97
R0622:Klhl29	UTSW	12	5,131,224 (GRCm39)	missense	probably damaging	1.00
R0631:Klhl29	UTSW	12	5,144,883 (GRCm39)	missense	probably benign	0.08
R0784:Klhl29	UTSW	12	5,131,251 (GRCm39)	missense	probably damaging	1.00
R1157:Klhl29	UTSW	12	5,140,650 (GRCm39)	missense	possibly damaging	0.89
R1521:Klhl29	UTSW	12	5,141,307 (GRCm39)	missense	probably damaging	1.00
R1535:Klhl29	UTSW	12	5,134,486 (GRCm39)	missense	probably damaging	1.00
R1599:Klhl29	UTSW	12	5,143,538 (GRCm39)	missense	probably damaging	1.00
R2049:Klhl29	UTSW	12	5,187,876 (GRCm39)	missense	probably damaging	0.96
R2568:Klhl29	UTSW	12	5,141,350 (GRCm39)	missense	probably damaging	0.96
R2883:Klhl29	UTSW	12	5,134,036 (GRCm39)	missense	probably damaging	1.00
R3724:Klhl29	UTSW	12	5,140,603 (GRCm39)	missense	probably damaging	0.99
R3951:Klhl29	UTSW	12	5,190,660 (GRCm39)	missense	probably damaging	1.00
R5031:Klhl29	UTSW	12	5,141,334 (GRCm39)	missense	probably benign	0.05
R5078:Klhl29	UTSW	12	5,143,530 (GRCm39)	missense	possibly damaging	0.82
R5410:Klhl29	UTSW	12	5,141,366 (GRCm39)	missense	probably benign	0.36
R5619:Klhl29	UTSW	12	5,190,587 (GRCm39)	missense	probably benign	0.23
R5681:Klhl29	UTSW	12	5,140,669 (GRCm39)	missense	possibly damaging	0.56
R6028:Klhl29	UTSW	12	5,140,995 (GRCm39)	nonsense	probably null
R6294:Klhl29	UTSW	12	5,133,995 (GRCm39)	missense	probably damaging	0.99
R6394:Klhl29	UTSW	12	5,187,720 (GRCm39)	missense	probably benign	0.00
R6394:Klhl29	UTSW	12	5,144,830 (GRCm39)	nonsense	probably null
R6475:Klhl29	UTSW	12	5,141,030 (GRCm39)	missense	probably damaging	0.98
R6737:Klhl29	UTSW	12	5,260,124 (GRCm39)	missense	possibly damaging	0.68
R6781:Klhl29	UTSW	12	5,141,347 (GRCm39)	missense	probably damaging	0.98
R6788:Klhl29	UTSW	12	5,134,393 (GRCm39)	missense	probably damaging	1.00
R7741:Klhl29	UTSW	12	5,187,500 (GRCm39)	missense	possibly damaging	0.49
R8709:Klhl29	UTSW	12	5,140,681 (GRCm39)	missense	probably damaging	1.00
R8886:Klhl29	UTSW	12	5,187,542 (GRCm39)	missense	possibly damaging	0.48
R8888:Klhl29	UTSW	12	5,187,542 (GRCm39)	missense	possibly damaging	0.48
R8954:Klhl29	UTSW	12	5,187,542 (GRCm39)	missense	possibly damaging	0.48
R8971:Klhl29	UTSW	12	5,190,710 (GRCm39)	critical splice acceptor site	probably null
R9031:Klhl29	UTSW	12	5,140,537 (GRCm39)	missense	probably damaging	1.00
R9066:Klhl29	UTSW	12	5,260,114 (GRCm39)	missense	probably benign	0.01
R9432:Klhl29	UTSW	12	5,260,056 (GRCm39)	missense	probably benign	0.00
R9509:Klhl29	UTSW	12	5,190,629 (GRCm39)	missense	probably damaging	0.98
R9733:Klhl29	UTSW	12	5,190,641 (GRCm39)	missense	probably damaging	1.00
Z1177:Klhl29	UTSW	12	5,131,152 (GRCm39)	makesense	probably null

Nature of Mutation

DNA sequencing using the SOLiD technique identified a G to A transition at position 3051 of the Klhl29 transcript in exon 13 of 14 total exons. The mutated nucleotide causes an alanine to threonine substitution at amino acid 773 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).

Protein Function and Prediction

The Klhl29 gene encodes an 875 amino acid protein that contains one protein-interacting BTB (POZ) domain (Uniprot B7ZNG7). The function of this protein is unknown.

The A773T change is predicted to be benign by the PolyPhen program.

Posted On

2010-05-04